title: Biotin deficiency in a glycogen storage disease type 1b girl fed only with glycogen storage disease-related formula.
abstract: Glycogen storage disease type I is an autosomal recessive disorder caused by the defect in the glucose-6-phosphate enzyme system. Frequent intake of glucose-containing glycogen storage disease formula, uncooked cornstarch, or both, are usually needed to maintain normal blood glucose level. We report a glycogen storage disease type 1b girl with biotin deficiency caused by an exclusive glucose-containing glycogen storage disease formula for years, presenting with the appearance of severe skin lesions, and diagnosed by urinary organic acid analysis by gas chromato-spectrometry, and blood acylcarnitine analysis by tandem mass-spectrometry.
authors.affiliation: Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan. k-ihara@pediatr.med.kyushu-u.ac.jp
authors.forename: Kenji
authors.initials: K
authors.lastname: Ihara
authors.forename: Kiyomi
authors.initials: K
authors.lastname: Abe
authors.forename: Kou
authors.initials: K
authors.lastname: Hayakawa
authors.forename: Mika
authors.initials: M
authors.lastname: Makimura
authors.forename: Kanako
authors.initials: K
authors.lastname: Kojima-Ishii
authors.forename: Toshiro
authors.initials: T
authors.lastname: Hara
mesh_terms: D001710:Biotin / Q000008:administration & dosage* / Q000172:deficiency*; D002675:Child, Preschool; D005260:Female; D005953:Glycogen Storage Disease Type I / Q000178:diet therapy*; D006801:Humans; D007223:Infant; D041943:Infant Formula / Q000008:administration & dosage*; D007228:Infant Nutrition Disorders / Q000178:diet therapy / Q000209:etiology; D014804:Vitamin B Deficiency / Q000178:diet therapy / Q000209:etiology*
chemical_list: D001710:Biotin